5 Iranian Registry of Neuro Metabolic Diseases(IRNMD)
 


 
 
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The Neurometabolic diseases are generally genetic diseases with a structural or functional enzymatic, or transporter defect in cellular metabolism. These disorders cause accumulation of the primary substrate that may be toxic for CNS .At the other hand it may be result in deficiency of product and lead to neurologic or developmental symptoms.
Inborn errors of metabolism are individually uncommon but important diseases and many of them have neurologic manifestations. Enzyme replacement therapy , diet and some supplements may be effective in these cases.
Noticed in their incidence(15.7/100000 live birth) and difficulties in their diagnosis, confrontation with them is not possible for all physicians and medical students and for this reason some of disease keep unknown for mentioned group.
We try to instigate a site for registration of Neurometabolic cases with their history, signs and symptoms, lab tests and imaging's.
Only clinical and biochemical well-defined cases are registered .
This is a collaborate project of all pediatric neurology centers in Iran and the main reason for initiating it is the fact that ,in daily practice it is very difficult to find patients with metabolic diseases.
We want to have an estimate about prevalence and incidence of neurometabolic diseases in our country.For this goal we need to help and collaboration of our colleagues (Child neurologists)in all part of Iran.
 
     
 
Total approved cases : 145

Diagnose names Number of approved cases Percentage
 2 Methylmalonic acidemia 22 15.2 %
 3 methylmalonic aciduria and homocystinuria 10 6.9 %
 5 Biotinidase deficiency 19 13.1 %
 6 isovaleric acidemia 4 2.8 %
 7 Glutaric aciduria type ll 1 0.7 %
 8 3methylcrotonyl glycinuria 1 0.7 %
 9 D-2-Hydroxyglutaric aciduria 3 2.1 %
 10 L-2 Hydroxyglutaric aciduria 1 0.7 %
 13 phenylketonuria 5 3.4 %
 16 Homocystinuria 1 0.7 %
 32 Medium chain acyl CoA dehydrogenase deficiency 1 0.7 %
 48 Glycogenosis type ll /Pompe 1 0.7 %
 49 MCAD glutaric aciduria type ll / ethylmalonic - adipic aciduria 4 2.8 %
 51 Adrenoleukodystrophy 4 2.8 %
 59 Menkes disease 1 0.7 %
 64 Sanfilippo disease 1 0.7 %
 74 Tay-sachs disease 3 2.1 %
 75 Sandhoff disease 6 4.1 %
 78 Niemann-pick disease 1 0.7 %
 79 Niemann-pick type C disease 7 4.8 %
 80 Krabbe disease 3 2.1 %
 84 Metachromatic leukodystrophy 1 0.7 %
 88 Maple syrup urine disease(MSUD) 1 0.7 %
 93 Propionic acidemia 2 1.4 %
 94 Canavan 3 2.1 %
 95 Zellweger 7 4.8 %
 96 Glutaric aciduria type l 17 11.7 %
 97 Leighsyndrome 4 2.8 %
 98 Succinate Dehydrogenase Deficiency 2 1.4 %
 99 3-Methylglutaconic aciduria (MGA) 1 0.7 %
 100 Ataxia with Oculomotor Apraxia Type 1 (AOA1) 2 1.4 %
 101 Tyrosinemia 1 0.7 %
 102 oxothiolase deficiency 1 0.7 %
 103 Mitochondrial cytochrome c oxidase (COX) deficiency 1 0.7 %
 104 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) 1 0.7 %
 105 Juvenile GM1 gangliosidosis 1 0.7 %
 106 GM1 gangliosidosis type II (Juvenile) 1 0.7 %

 
     
 
5th Neurometabolic Conference Storage Disease: Neimann-Pick Type C was held on 26 November 2015
Board Committee election of the "Iranian Neurometabolic Society"
5th Neurometabolic Conference
.Informative: The Section of Nurometabolic Disorder in IJCN
Gene therapy for epilepsy
Tsunami Stress May Have Brought on Seizures
Microbots to treat stroke patients
MRI can damage cochlear implants

 
Conference: 5th Neurometabolic Disorder Conference
Conference: 4th Neurometabolic Disorder Conference20 November 2014 Mofid Children Hospital , Tehran Iran
Conference: First Congress on Pediatric Neurological Disorder & Hearing Impairment
3rd Iranian Neurometabolic Congress 12 Dec 2013
 
Niemann –Pick C Disease: Is It A Misnomenclature?
Eye see cam Video -Oculography (VOG): A New Method for Diagnosis and Following of NPC Patients
Other Experimental Therapies in Neimann Pick Diseases
Management of NPC
Vitamin E and Niemann–Pick Disease Type C

 

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